Results 1 to 10 of about 6,585,062 (339)
Biosensors for Point Mutation Detection [PDF]
Point mutations referring to a single base pair change, have a profound effect on the phenotype and play important roles in the variety of diseases (Nasis et al., 2004; Silva et al., 2017; Breveglieri et al., 2018).
Hanlin Jiang+3 more
doaj +4 more sources
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) [PDF]
We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction ...
Charles R. Newton+7 more
openalex +2 more sources
Getting to the point (mutation). [PDF]
S. Karipcin, Shan Wei, Zev Williams
semanticscholar +4 more sources
Salmonella enteritidis acquires phage resistance through a point mutation in rfbD but loses some of its environmental adaptability [PDF]
Phage therapy holds promise as an alternative to antibiotics for combating multidrug-resistant bacteria. However, host bacteria can quickly produce progeny that are resistant to phage infection.
Yukun Zeng+5 more
doaj +2 more sources
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification [PDF]
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi+13 more
doaj +2 more sources
Point Mutation Rate of Bacteriophage ΦX174 [PDF]
Abstract The point mutation rate of phage ΦX174 was determined using the fluctuation test. After identifying the genetic changes associated with the selected phenotype, we obtained an estimate of 1.0 × 10−6 substitutions per base per round of copying, which is consistent with Drake's rule (0.003 mutations per genome per round of copying ...
J. Cuevas, S. Duffy, R. Sanjuán
semanticscholar +4 more sources
Single point mutation or chromosomal rearrangement. [PDF]
David W. Talmage+2 more
openalex +4 more sources
With the COVID-19 pandemic continuing, more contagious SARS-CoV-2 variants, including Omicron, have been emerging. The mutations, especially those that occurred on the spike (S) protein receptor-binding domain (RBD), are of significant concern due to ...
Zhongyun Zhang+5 more
doaj +1 more source
Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori
Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to investigate the role of different point ...
Sang Yoon Kim+7 more
doaj +1 more source
Variability of Iron Load in Patients of Sickle Cell Anaemia (HbSS): A study from Eastern India [PDF]
Introduction: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the b-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least ...
Pranati Mohanty+2 more
doaj +1 more source